10941[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 147894	GRCh38/hg38 4q13.2-13.3(chr4:68537073-69610311)x3	LOC105377267, LOC111589210 +18 more	Copy number gain	See cases	GBenign
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152287	GRCh38/hg38 4q13.2-13.3(chr4:68796335-69850009)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 155054	GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3	LOC105377267, LOC111589210 +22 more	Copy number gain	See cases	GUncertain significance
Select item 160854	GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3	LOC105377267, LOC111589210 +21 more	Copy number gain	See cases	GUncertain significance
Select item 147584	GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3	AMBN, AMTN +38 more	Copy number gain	See cases	GPathogenic
Select item 2374899	NM_001252275.3(UGT2A1):c.1463C>A (p.Ser488Tyr)	UGT2A1, UGT2A2 (S444Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789578	NM_001252275.3(UGT2A1):c.1369C>T (p.Arg457Ter)	UGT2A1, UGT2A2 (R413* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 780463	NM_001252275.3(UGT2A1):c.1179G>A (p.Met393Ile)	LOC129389218, UGT2A1 +1 more (M358I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788781	NM_001252275.3(UGT2A1):c.1170A>T (p.Gly390=)	LOC129389218, UGT2A1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738812	NM_001252275.3(UGT2A1):c.1041C>T (p.Asn347=)	UGT2A1, UGT2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717876	NM_001252275.3(UGT2A1):c.1020G>T (p.Lys340Asn)	UGT2A1, UGT2A2 (K296N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3186146	NM_001252275.3(UGT2A1):c.997-1026C>T	UGT2A1, UGT2A2 (S324L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738813	NM_001252275.3(UGT2A1):c.930T>G (p.Arg310=)	UGT2A1, UGT2A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343860	NM_001105677.2(UGT2A2):c.824G>A (p.Arg275His)	UGT2A1, UGT2A2 (R266H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654790	NM_001105677.2(UGT2A2):c.742+3061_742+3070dup	UGT2A1, UGT2A2	Duplication (intron variant)	not provided	GLikely benign
Select item 3330851	NM_001105677.2(UGT2A2):c.709G>A (p.Gly237Arg)	UGT2A1, UGT2A2 (G438R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186149	NM_001105677.2(UGT2A2):c.706T>G (p.Trp236Gly)	UGT2A1, UGT2A2 (W236G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512349	NM_001105677.2(UGT2A2):c.637A>G (p.Met213Val)	UGT2A1, UGT2A2 (M213V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186148	NM_001105677.2(UGT2A2):c.499C>T (p.Leu167Phe)	UGT2A1, UGT2A2 (L368F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406614	NM_001105677.2(UGT2A2):c.451G>C (p.Gly151Arg)	UGT2A1, UGT2A2 (G151R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209279	NM_001105677.2(UGT2A2):c.440G>A (p.Arg147Lys)	UGT2A1, UGT2A2 (R147K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227882	NM_001105677.2(UGT2A2):c.353A>G (p.Lys118Arg)	UGT2A1, UGT2A2 (K118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330852	NM_001105677.2(UGT2A2):c.268A>G (p.Ser90Gly)	UGT2A1, UGT2A2 (S291G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468684	NM_001105677.2(UGT2A2):c.205T>C (p.Phe69Leu)	UGT2A1, UGT2A2 (F69L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186147	NM_001105677.2(UGT2A2):c.155T>G (p.Leu52Trp)	UGT2A1, UGT2A2 (L253W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316791	NM_001105677.2(UGT2A2):c.140T>C (p.Ile47Thr)	UGT2A1, UGT2A2 (I47T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621636	NM_001105677.2(UGT2A2):c.133A>G (p.Ile45Val)	UGT2A1, UGT2A2 (I45V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327526	NM_001105677.2(UGT2A2):c.26T>G (p.Met9Arg)	UGT2A1, UGT2A2 (M9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617714	NM_001105677.2(UGT2A2):c.10A>G (p.Ile4Val)	UGT2A1, UGT2A2 (I4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558556	NM_001252275.3(UGT2A1):c.686C>T (p.Ser229Leu)	UGT2A1 (S229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286410	NM_001252275.3(UGT2A1):c.644C>T (p.Ser215Phe)	UGT2A1 (S215F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403582	NM_001252275.3(UGT2A1):c.576T>A (p.Tyr192Ter)	UGT2A1 (Y192*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely benign
Select item 2212881	NM_001252275.3(UGT2A1):c.575A>G (p.Tyr192Cys)	UGT2A1 (Y192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330850	NM_001252275.3(UGT2A1):c.556G>A (p.Val186Ile)	UGT2A1 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186144	NM_001252275.3(UGT2A1):c.504G>A (p.Met168Ile)	UGT2A1 (M168I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340953	NM_001252275.3(UGT2A1):c.476T>G (p.Val159Gly)	UGT2A1 (V159G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186143	NM_001252275.3(UGT2A1):c.467G>A (p.Gly156Asp)	UGT2A1 (G156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240402	NM_001252275.3(UGT2A1):c.426C>A (p.Ser142Arg)	UGT2A1 (S142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186142	NM_001252275.3(UGT2A1):c.349G>A (p.Asp117Asn)	UGT2A1 (D117N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456300	NM_001252275.3(UGT2A1):c.254G>A (p.Gly85Glu)	UGT2A1 (G85E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2281960	NM_001252275.3(UGT2A1):c.241G>A (p.Glu81Lys)	UGT2A1 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319404	NM_001252275.3(UGT2A1):c.200C>A (p.Pro67Gln)	UGT2A1 (P67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352291	NM_001252275.3(UGT2A1):c.167C>T (p.Ser56Phe)	UGT2A1 (S56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773154	NM_001252275.3(UGT2A1):c.164C>T (p.Ala55Val)	UGT2A1 (A55V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3186141	NM_001252275.3(UGT2A1):c.143A>G (p.His48Arg)	UGT2A1 (H48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330849	NM_001252275.3(UGT2A1):c.128T>C (p.Leu43Pro)	UGT2A1 (L43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186140	NM_001252275.3(UGT2A1):c.122A>G (p.Asp41Gly)	UGT2A1 (D41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551752	NM_001252275.3(UGT2A1):c.82A>G (p.Met28Val)	UGT2A1 (M28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491258	NM_001252275.3(UGT2A1):c.68T>C (p.Val23Ala)	UGT2A1 (V23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685970	GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3	AMBN, AMTN +38 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 1809429	GRCh37/hg19 4q13.2-13.3(chr4:70479061-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1808523	GRCh37/hg19 4q13.2-13.3(chr4:69661413-70724847)x3	UGT2A1, UGT2A2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808451	GRCh37/hg19 4q13.2-13.3(chr4:70478978-70985189)x1	CSN1S1, CSN2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562927	GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3	CSN1S1, SULT1E1 +14 more	Copy number gain	not provided	GUncertain significance
Select item 562926	GRCh37/hg19 4q13.2-13.3(chr4:69717201-70563328)x1	UGT2A1, UGT2B4 +5 more	Copy number loss	not provided	GLikely benign
Select item 562920	GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3	ADAMTS3, AMBN +49 more	Copy number gain	not provided	GPathogenic
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75